ischemic bone disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	ischemic bone disease	go back to main search page
Accession:	DOID:0080008	browse the term
Definition:	A bone disease that results_in an interruption of blood supply located_in bone. (DO)
Synonyms:	primary_id:	RDO:9004302

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Rat (31) Mouse (31) Human (192) Chinchilla (28) Bonobo (29) Dog (29) Squirrel (28) Pig (29) Green Monkey (27) Naked Mole-rat (26) All
Genes (31)

ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NIMA-related kinase 9

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy

OMIM
CTD
ClinVar

PMID:25741868 PMID:26633546 PMID:28492532

NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538

Bisphosphonate-Associated Osteonecrosis of the Jaw

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

treatment

associated with Multiple Myeloma

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

Femur Head Necrosis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

alpha-2-macroglobulin

mRNA:increased expression:head of femur

RGD

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

ATP binding cassette subfamily B member 1A

susceptibility

associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human)

RGD

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

catalase

susceptibility

DNA:SNPs:multiple:

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

collagen type II alpha 1 chain

mRNA:increased expression:head of femur
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More...

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

coagulation factor II, thrombin

associated with kidney transplantation;20210G>A(human)

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor V

associated with kidney transplantation;1691G>A(human)

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

glutathione S-transferase mu 1

associated with sickle cell anemia;

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

associated with sickle cell anemia;

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

hypoxia inducible factor 1 subunit alpha

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

interleukin 23 receptor

susceptibility

associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human)

RGD

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

LDL receptor related protein 5

treatment

RGD

NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581

G

MIA SH3 domain containing

mRNA:increased expression:head of femur

RGD

NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370

G

microRNA 23a

ameliorates

RGD

NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071

G

nitric oxide synthase 3

susceptibility

associated with Alcohol-Related Disorders;DNA:SNPs,haplotype::rs743506,rs3918184 (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

plasminogen activator, tissue type

DNA:insertion:intron:IVS8 (human)

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

tissue factor pathway inhibitor

susceptibility

DNA:haplotype: :
protein:increased expression:femur head:

RGD

PMID:18695356 PMID:23063054

RGD:11060260, RGD:11062059

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

transient receptor potential cation channel, subfamily V, member 4

ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4056805 PMID:8179305 PMID:20037586 PMID:20037587 PMID:20037588 More...

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

Legg-Calve-Perthes disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans

OMIM
CTD
ClinVar

PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More...

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ClinVar Annotator: match by term: Legg-Calve-Perthes disease

PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 More...

NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933

osteochondritis dissecans

term browser

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Object Name

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PubMed Reference(s)

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G

aggrecan

ClinVar Annotator: match by term: Osteochondritis dissecans

PMID:16080123 PMID:20137779 PMID:24762113 PMID:25741868 PMID:27870580 More...

NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627

osteonecrosis

term browser

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Object Name

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PubMed Reference(s)

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G

annexin A2

RGD

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

methylenetetrahydrofolate reductase

no_association

associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

plasminogen

associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)

RGD

PMID:16547717 PMID:16677567

RGD:30309948, RGD:30309951

NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786

G

protein C, inactivator of coagulation factors Va and VIIIa

associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)

RGD

PMID:16547717 PMID:16677567

RGD:30309948, RGD:30309951

NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133

G

serpin family C member 1

associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)

RGD

PMID:16677567 PMID:16547717

RGD:30309951, RGD:30309948

NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293

G

von Willebrand factor

associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

Scheuermann's disease

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

C-type lectin domain family 3, member B

OMIM:181440

NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835

G

nuclear factor I X

OMIM:181440

NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265

SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS

term browser

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Object Name

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aggrecan

ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More...

NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627

Term paths to the root

Path 1
Term	Annotations
disease	18976
disease of anatomical entity	18260
musculoskeletal system disease	8304
bone disease	4302
ischemic bone disease	31
dysbaric osteonecrosis	0
osteochondritis dissecans +	1
osteochondrosis +	6
osteonecrosis +	28
Path 2
Term	Annotations
disease	18976
disease of anatomical entity	18260
musculoskeletal system disease	8304
connective tissue disease	5786
bone disease	4302
ischemic bone disease	31
dysbaric osteonecrosis	0
osteochondritis dissecans +	1
osteochondrosis +	6
osteonecrosis +	28

paths to the root